Variant report

Variant	rs11601870
Chromosome Location	chr11:66754609-66754610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66753675..66756281-chr11:67166786..67169328,2	MCF-7	breast:
2	chr11:66752580..66754982-chr11:66788574..66790198,3	MCF-7	breast:
3	chr11:66724206..66727153-chr11:66752954..66754793,2	MCF-7	breast:
4	chr11:66748487..66751221-chr11:66752462..66754679,2	K562	blood:
5	chr11:66748815..66755953-chr11:66843606..66849844,15	MCF-7	breast:
6	chr11:66751363..66756232-chr11:66844314..66849671,8	MCF-7	breast:
7	chr11:66753318..66755986-chr11:66757974..66761655,4	MCF-7	breast:
8	chr11:66751953..66755411-chr11:66822533..66828022,8	MCF-7	breast:
9	chr11:66658390..66661690-chr11:66751725..66755262,3	K562	blood:
10	chr11:66622222..66625021-chr11:66753406..66755313,2	MCF-7	breast:
11	chr11:66733106..66735864-chr11:66753931..66756641,2	MCF-7	breast:
12	chr11:66754016..66755985-chr11:66790272..66792414,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172531	Chromatin interaction
ENSG00000173599	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173156	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12419173	0.92[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12799159	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4008842	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
5	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11601870	EHBP1L1	cis	cerebellum	SCAN
rs11601870	FGF4	cis	parietal	SCAN
rs11601870	SLC25A45	cis	parietal	SCAN
rs11601870	ACTN3	cis	Muscle Skeletal	GTEx
rs11601870	BBS1	cis	parietal	SCAN
rs11601870	CCS	cis	lymphoblastoid	seeQTL
rs11601870	CCS	cis	multi-tissue	Pritchard
rs11601870	MACROD1	cis	parietal	SCAN
rs11601870	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs11601870	CDC42BPG	cis	cerebellum	SCAN
rs11601870	PC	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66748800-66755800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:66748800-66756000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:66749600-66755000	Enhancers	Stomach Mucosa	stomach
4	chr11:66750000-66754800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:66751000-66755200	Enhancers	Liver	Liver
6	chr11:66751400-66755200	Enhancers	Hela-S3	cervix
7	chr11:66751800-66754800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:66752400-66754800	Enhancers	Left Ventricle	heart
9	chr11:66752600-66754800	Weak transcription	Spleen	Spleen
10	chr11:66752800-66754800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:66752800-66755200	Enhancers	Right Ventricle	heart
12	chr11:66753000-66755000	Enhancers	Gastric	stomach
13	chr11:66753000-66755200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:66753400-66755600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:66753600-66754800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:66753600-66755200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:66753800-66755000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:66754000-66764000	Weak transcription	Right Atrium	heart
19	chr11:66754400-66755000	Weak transcription	Pancreas	Pancrea
20	chr11:66754400-66755000	Enhancers	HepG2	liver
21	chr11:66754400-66755600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:66754600-66754800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:66754600-66755000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:66754600-66755200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:66754600-66755200	Enhancers	Adipose Nuclei	Adipose
26	chr11:66754600-66755400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:66754600-66755600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:66754600-66755600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:66754600-66755600	Enhancers	A549	lung

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